Splicing mutation causes infantile Sandhoff disease.
Gomez-Lira
M
M
Istituto Biologia e Genetica, Università di Verona, Italy. macarena@borgoroma.univr.it
Perusi
C
C
Mottes
M
M
Pignatti
P F
PF
Rizzuto
N
N
Gatti
R
R
Salviati
A
A
D017398:Alternative Splicing / Q000235:genetics*; D015152:Blotting, Northern; D004247:DNA / Q000097:blood / Q000302:isolation & purification; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D012313:RNA / Q000097:blood / Q000302:isolation & purification; D012497:Sandhoff Disease / Q000201:enzymology / Q000235:genetics*; D001619:beta-N-Acetylhexosaminidases / Q000235:genetics
D012313:RNA; D004247:DNA; D001619:beta-N-Acetylhexosaminidases